Canonical Allele Identifier: CA123065

Gene: PSAP

Linked Data

• ClinVar Variation Id: 13370
• ClinVar RCV Id: RCV000014299
• dbSNP Id: rs121918108
• MyVariant Identifiers: chr10:g.73579519A>C (hg19) ; chr10:g.71819762A>C (hg38)
• PubMed: PMID:2615292 ; PMID:8460394 ; PMID:15856305

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71819762A>C , CM000672.2:g.71819762A>C	GRCh38
NC_000010.10:g.73579519A>C , CM000672.1:g.73579519A>C	GRCh37
NC_000010.9:g.73249525A>C	NCBI36
NG_009301.1:g.36564T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394936.8:c.1144T>G MANE Select	ENSP00000378394.3:p.Cys382Gly
ENST00000394934.4:c.1153T>G	ENSP00000378392.2:p.Cys385Gly
ENST00000394936.7:c.1144T>G	ENSP00000378394.3:p.Cys382Gly
ENST00000493143.1:n.565T>G
ENST00000610929.3:c.292T>G	ENSP00000480857.1:p.Cys98Gly
NM_001042465.1:c.1153T>G	NP_001035930.1:p.Cys385Gly
NM_001042466.1:c.1150T>G	NP_001035931.1:p.Cys384Gly
NM_002778.2:c.1144T>G	NP_002769.1:p.Cys382Gly
NM_001042465.2:c.1153T>G	NP_001035930.1:p.Cys385Gly
NM_001042466.2:c.1150T>G	NP_001035931.1:p.Cys384Gly
NM_002778.3:c.1144T>G	NP_002769.1:p.Cys382Gly
NM_002778.4:c.1144T>G MANE Select	NP_002769.1:p.Cys382Gly
NM_001042465.3:c.1153T>G	NP_001035930.1:p.Cys385Gly
NM_001042466.3:c.1150T>G	NP_001035931.1:p.Cys384Gly